Journal
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 11
Volume 11, Issue -, Pages 189-217Publisher
ANNUAL REVIEWS
DOI: 10.1146/annurev-genom-082908-150158
Keywords
FGF; TGF beta; BMP; WNT; Notch; hedgehog
Categories
Funding
- Howard Hughes Medical Institute Funding Source: Medline
- NICHD NIH HHS [HD22657] Funding Source: Medline
- NIDCR NIH HHS [DE16990, DE017713] Funding Source: Medline
- NIGMS NIH HHS [T32GM008307] Funding Source: Medline
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT [P01HD022657] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF DENTAL &CRANIOFACIAL RESEARCH [R01DE016990, R01DE017713] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [T32GM008307] Funding Source: NIH RePORTER
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Human skeletal dysplasias are disorders that result from errors in bone, cartilage, and joint development. A complex series of signaling pathways, including the FGF, TGF beta, BMP, WNT, Notch, and Hedgehog pathways, are essential for proper skeletogenesis, and human skeletal dysplasias are often a consequence of primary or secondary dysregulation of these pathways. Although these pathways interact to regulate bone, cartilage, and joint formation, human genetic phenotypes point to the predominant action of specific components of these pathways. Mutations in the genes with a role in metabolic processing within the cell, the extracellular matrix, and transcriptional regulation can lead to dysregulation of cell cell and cell matrix signaling that alters tissue patterning, cell differentiation, proliferation, and apoptosis. We propose a morphogen rheostat model to conceptualize how mutations in different metabolic processes can lead to the integration of differential signaling inputs within a temporal and spatial context to generate apparently divergent skeletal phenotypes.
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